Term Name: developmental and epileptic encephalopathy 36
Synonyms: congenital disorder of glycosylation, type Is, early infantile epileptic encephalopathy 36
Definition: A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23.
Ontology: Human Disease [DOID:0080470]   ( DOID:0080470 )

Relationships
is a type of: developmental and epileptic encephalopathy X-linked dominant disease